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Page 1
DUF1220-domain copy number implicated in human brain-size pathology and evolution.
Dumas LJ, O'Bleness MS, Davis JM, Dickens CM, Anderson N, Keeney JG, Jackson J, Sikela M, Raznahan A, Giedd J, Rapoport J, Nagamani SS, Erez A, Brunetti-Pierri N, Sugalski R, Lupski JR, Fingerlin T, Cheung SW, Sikela JM. Dumas LJ, et al. Among authors: sugalski r. Am J Hum Genet. 2012 Sep 7;91(3):444-54. doi: 10.1016/j.ajhg.2012.07.016. Epub 2012 Aug 16. Am J Hum Genet. 2012. PMID: 22901949 Free PMC article.
Copy number variations in three children with sudden infant death.
Toruner GA, Kurvathi R, Sugalski R, Shulman L, Twersky S, Pearson PG, Tozzi R, Schwalb MN, Wallerstein R. Toruner GA, et al. Among authors: sugalski r. Clin Genet. 2009 Jul;76(1):63-8. doi: 10.1111/j.1399-0004.2009.01161.x. Clin Genet. 2009. PMID: 19659761
A new case of MOMO syndrome.
Wallerstein R, Sugalski RD. Wallerstein R, et al. Among authors: sugalski rd. Clin Dysmorphol. 2010 Jan;19(1):1-4. doi: 10.1097/MCD.0b013e32831552a8. Clin Dysmorphol. 2010. PMID: 19996736
Expansion of the ARX spectrum.
Wallerstein R, Sugalski R, Cohn L, Jawetz R, Friez M. Wallerstein R, et al. Among authors: sugalski r. Clin Neurol Neurosurg. 2008 Jun;110(6):631-4. doi: 10.1016/j.clineuro.2008.03.007. Epub 2008 May 6. Clin Neurol Neurosurg. 2008. PMID: 18462864
Atypical GH insensitivity syndrome and severe insulin-like growth factor-I deficiency resulting from compound heterozygous mutations of the GH receptor, including a novel frameshift mutation affecting the intracellular domain.
Aisenberg J, Auyeung V, Pedro HF, Sugalski R, Chartoff A, Rothenberg R, Derr MA, Hwa V, Rosenfeld RG. Aisenberg J, et al. Among authors: sugalski r. Horm Res Paediatr. 2010;74(6):406-11. doi: 10.1159/000314968. Epub 2010 Jul 7. Horm Res Paediatr. 2010. PMID: 20606392